Figuring out hidden health issues with Yirmiyahu

I haven’t been able to find much time for blogging about the many significant things on my mind, and hope you don’t think I’ve disappeared!

Since the older kids are out of the house, I spend more of my free time speaking to them on the phone in the evenings, which cuts down on my blogging time.  And an ongoing area where I invest a lot of time is reading about issues relating to Trisomy 21 and trying to wrap my head around them.  Methylation cycles, folate receptors and stuff like that honestly make me want to yawn immediately.  I don’t enjoy the details of bio-chemistry; I’m very much a big picture person and the kind of details I have to now try to understand are almost overwhelming for me.  Since Yirmiyahu has been born I’ve done so much reading and I feel like I’m barely getting the gist of most of it.  Unfortunately, it’s still more than many doctors know (which is understandable since how much experience is any one doctor going to have with T21? and they can’t spend the time that I can on this) and that’s really frustrating since I’d like medical advisors who understand my questions and can help me find answers.

When Yirmiyahu was ten days old, I asked his pediatrician about having his MTHFR status tested.  She told me she never heard of it and that I’m making problems for myself with my internet research.  Undeterred, I spoke to the geneticist when he was two weeks old, sure that she would have experience with this.  She had never heard of it.  Undeterred, I spoke to his pediatric hematologist that same day.  He also didn’t know what I was talking about.  That was my first experience and it was to become typical of my experiences in the year to come.

Here’s what I’ve been working on for the last few months.  I’ve been concerned that Yirmiyahu’s thyroid isn’t functioning properly, and believe he has some signs of being hypothyroid.  Lately I’ve been deep into reading about the thyroid.  Did I mention I really dislike biochemistry?  I really really really don’t enjoy it and I feel a lot of pressure to figure this out whether I like it or not.  I have a strong feeling that when it comes to Yirmiyahu’s health, “If it is to be, it’s up to me”.  I know that sounds arrogant, but believe me, I really don’t  mean it like that.  I wish I didn’t have to figure out so much by myself, I wish the doctors would help me address issues instead of mostly telling me that everything is fine or what do I expect, he has T21.  I constantly battle feelings of frustration that as a lay person I have to figure things out; this frustration is coming from my fear that Yirmiyahu is going to be negatively impacted if I don’t figure this out.  Fortunately I believe that God plays a large role in this or I would have a lot more resentment and pressure than I do.

Months ago I made an appointment with the specialist in the country on T21.  I did this specifically to discuss the thyroid issue with someone knowledgeable about how this affects people with Down syndrome and what can be done about it.  After a three month wait, I had the appointment.  I told him the signs that I thought were pointing to hypothyroid, and I was pleasantly surprised that he took me seriously and said I was very likely right.  However, he ran the bloodwork following that appointment and so I wasn’t able to discuss the results with him that day.  I did ask him about his approach to treating it; he said he was very aggressive (good) but didn’t know anything about natural thyroid treatment (bad).

I got the test results and wasn’t able to reach this doctor to discuss the numbers, so I took them to my pediatrician, who said they looked normal.  I didn’t think so.  I sent them to another mom of a child with T21 who has become a bit of a self-educated expert on thyroid issues, who told me they looked ‘wonky’ and asked for permission to send it to someone much more knowledgeable than her.  (That someone is flat out amazing; I’ve become familiar with her in another venue and I’m awed by what she knows about thyroid stuff.)

The answer I got back was a relief, since she said there’s a good chance we don’t yet have a thyroid issue but a lack of nutrients that are manifesting as thyroid issues.  It doesn’t mean everything is okay – everything isn’t okay – and I spent hours this week working out what supplements to get him, in what form, etc, in order to address this.  It was interesting how her recommendations intersected with other health issues I’ve been researching.  All the concerns I was researching as separate issues seem to be linked to some key nutrients that he’s deficient in, specifically folinic acid, B12 and l-5MTHF.   I was leery of supplementing folate because of oxidative stress issues in the T21 population – it’s not as as simple as, ‘notice a deficiency, give a supplement’ – and he can’t swallow pills so that’s why I needed time to work out the specifics.  I’m so grateful to other T21 moms for paving the way and sharing their experience because this would be incalculably more difficult without them.

I’m hopeful that once we get started with these supplements that we’ll start seeing some changes.  I’ll be looking for changes in his energy- he’s become less and less active over time; he’s still the same sweet natured baby but he seems tired and weaker than he was months ago.  I’m also hoping for an increase in growth.  I’ve repeatedly told the doctors that I think something’s wrong, that he’s very small and not growing enough.  I have nine other kids who were in the 95% for height and at least 75% for weight.  Yirmiyahu has the same genes as them (obviously excepting the issue of the triplication of the 21st chromosome) and he’s off the charts small,   They told me that kids with Down syndrome are all small.  And why do they think that is?  Could it be because there are underlying issues that aren’t being treated?  This answer is one that grates on my nerves a lot, it’s like an excuse for not giving him the treatment he needs.

I’m still concerned that there may be an iron absorption issue, something that is keeping him from absorbing the nutrients that he’s getting.  But I’m hoping for the best, and if  I’ll cross that bridge when I get to it.

Avivah

11 thoughts on “Figuring out hidden health issues with Yirmiyahu

  1. Sorry to hear about your struggles, but good for you for being a research hound!

    Do you have him on probiotics and prebiotics? You can open the capsules and sprinkle them on his food. I’m wondering if part of the problem is that he’s not fully digesting or absorbing his food. The best diet in the world won’t help him if he’s not getting it into his system. (Forgive me if you’ve already thought of this!)

    1. It’s a good question, Yocheved! He’s been on high quality probiotics since he was four days old, when I put them into the milk I was expressing for him while he was in the NICU. He gets them daily, usually twice a day.

      I recently learned about a homeopathic cell salt that improves iron absorption and I’m thinking of getting him if I don’t see improvements with these supplements. If I was in the US I would give it to him already but I can’t easily order it so it will take some figuring to work out getting it.

  2. i would be happy to be in phone contact with you even though i am in jerusalem. i have experience with some of the issues you mentioned because of my work with autism. dr. wilensky 02 6728142

  3. do you have newborn screening blood test in israel, taken 36 hours after the birth? did yirmiyahu have it? if he did, maybe you can get hold of the results? this test is aimed to uncover metabolism issues, among of them thyroid

    1. He’s had a lot of bloodwork done, but the problem is that doctors don’t recognize a thyroid issue until the numbers are in a certain range. Research has shown that they levels need to be much lower than what has traditionally been recommended, but the doctors I’ve spoken to are all going according to the old recommendation. And even though his are higher than the old recommended number, they’re telling me it’s fine.

  4. Avivah, why were you recommended to take folinic acid? It should be L-Methylfolate. Nutrivene will custom make that in the nvd if you have a dr. note about having mthfr. If not, MSB has a new methyl plus formulation, which I have tried and Jojo has done very well on. The other company that I use for all the rest of us, is ” seeking health” they have a methylfolate/B12 sublinguial, which I have given him, when we ran out of the other and all their multi’s and Bcomplex contain methylfolate. I personally think mthfr is pretty big and affects many functions…, that was why I was so ambivalent about the nvd when Jojo was a baby, just putting more folic acid in his body concerned me, in the end, mother’s intuition was right. I also encountered hcp who didn’t think it necessary to test him for mthfr, so I got tested and then showed his dr. the positive results. He then ordered the test for Jojo. wishing you all the best for the new year!!!

    1. Hi, Gilla! I’ve thought there was some kind of folate issue for him for a while but the doctors told me to give him regular iron drops, which I didn’t want to do. I’ve been so unsure about what supp to use to address it that I wasn’t giving him anything. I’m positive that there’s a cerebral folate deficiency that we’re looking at, and I finally ordered both folinic acid and l-5mthf so that we’ll hopefully cover all our bases, using this post of Andi’s for guidelines http://dsdaytoday.blogspot.co.il/2013/03/cerebral-folate-deficiency-in-down.html. .

      I do use nvd and am ambivalent about the folic acid in it- I’d rather it wasn’t in there but am mentally deferring to those who are presumably composing it based on the research. We don’t have any mthfr status findings yet and while I assume there’s some kind of issue there, I have no way to know if that’s the case or not, and currently no prospects for getting this testing done.

  5. Avivah,thanks for that link, I used to read her blog a long while ago. Iam going to look up more info on the folinic acid and I will also email dr. Ben Lynch and see what he knows or can find out. I do remember it not being recommended for mthfr, but then again, ds sometimes changes everything :)

  6. Avivah, there is a doc here in Balto who is expert on MTHFR, kid’s learning and behavior issues and supplementation. He does not know about homeopathics, though one can use homeopathic cell salts in addition to vitamin/mineral supplementation (I combine and mix and match for myself and recommend the same in my practice). Feel free to email me (or Skype!) anytime.

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